Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MPZ Gene

Aliases for MPZ Gene

  • Myelin Protein Zero 2 3 4 5
  • Charcot-Marie-Tooth Neuropathy 1B 2 3
  • Myelin Peripheral Protein 3 4
  • MPP 3 4
  • CMTDI3 3
  • CMTDID 3
  • HMSNIB 3
  • CMT4E 3
  • CMT2I 3
  • CMT2J 3
  • CMT1B 3
  • CMT1 3
  • CHM 3
  • DSS 3
  • P0 3

External Ids for MPZ Gene

Previous HGNC Symbols for MPZ Gene

  • CMT1
  • CMT1B

Previous GeneCards Identifiers for MPZ Gene

  • GC01M158985
  • GC01M157006
  • GC01M158052
  • GC01M158491
  • GC01M158087
  • GC01M159541
  • GC01M161274
  • GC01M132631

Summaries for MPZ Gene

Entrez Gene Summary for MPZ Gene

  • This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]

GeneCards Summary for MPZ Gene

MPZ (Myelin Protein Zero) is a Protein Coding gene. Diseases associated with MPZ include charcot-marie-tooth disease, type 1b and roussy-levy syndrome. Among its related pathways are Gene Expression and Regulation of TP53 Activity. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is MPZL1.

UniProtKB/Swiss-Prot for MPZ Gene

  • Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae.

Gene Wiki entry for MPZ Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPZ Gene

Genomics for MPZ Gene

Regulatory Elements for MPZ Gene

Genomic Location for MPZ Gene

Chromosome:
1
Start:
161,304,735 bp from pter
End:
161,309,972 bp from pter
Size:
5,238 bases
Orientation:
Minus strand

Genomic View for MPZ Gene

Genes around MPZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPZ Gene

Proteins for MPZ Gene

  • Protein details for MPZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25189-MYP0_HUMAN
    Recommended name:
    Myelin protein P0
    Protein Accession:
    P25189
    Secondary Accessions:
    • Q16072
    • Q5VTH4
    • Q92677
    • Q9BR67

    Protein attributes for MPZ Gene

    Size:
    248 amino acids
    Molecular mass:
    27555 Da
    Quaternary structure:
    • Homodimer and homotetramer.
    SequenceCaution:
    • Sequence=AAH06491.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAP35411.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA03540.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG36330.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH70270.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW52606.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MPZ Gene

    Alternative splice isoforms for MPZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPZ Gene

Proteomics data for MPZ Gene at MOPED

Post-translational modifications for MPZ Gene

Other Protein References for MPZ Gene

Antibody Products

No data available for DME Specific Peptides for MPZ Gene

Domains & Families for MPZ Gene

Gene Families for MPZ Gene

Suggested Antigen Peptide Sequences for MPZ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P25189

UniProtKB/Swiss-Prot:

MYP0_HUMAN :
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
  • Belongs to the myelin P0 protein family.
Domain:
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
Family:
  • Belongs to the myelin P0 protein family.
genes like me logo Genes that share domains with MPZ: view

Function for MPZ Gene

Molecular function for MPZ Gene

GENATLAS Biochemistry:
myelin protein zero,14.8kDa,adhesion molecule,expressed in Schwann all of the peripheral nervous sytem,involved in formation and maintenance of compact myelin
UniProtKB/Swiss-Prot Function:
Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacent lamellae.
genes like me logo Genes that share phenotypes with MPZ: view

Human Phenotype Ontology for MPZ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MPZ Gene

MGI Knock Outs for MPZ:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for MPZ Gene

Localization for MPZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPZ Gene

Cell membrane; Single-pass type I membrane protein.
Isoform L-MPZ: Myelin membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MPZ Gene COMPARTMENTS Subcellular localization image for MPZ gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
extracellular 3
lysosome 3
vacuole 3
cytoskeleton 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MPZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005887 integral component of plasma membrane IEA --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with MPZ: view

Pathways & Interactions for MPZ Gene

genes like me logo Genes that share pathways with MPZ: view

Gene Ontology (GO) - Biological Process for MPZ Gene

None

No data available for SIGNOR curated interactions for MPZ Gene

Drugs & Compounds for MPZ Gene

(16) Drugs for MPZ Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(17) Additional Compounds for MPZ Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MPZ: view

Transcripts for MPZ Gene

Unigene Clusters for MPZ Gene

Myelin protein zero:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MPZ Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7
SP1: - -
SP2: -
SP3:
SP4: -

Relevant External Links for MPZ Gene

GeneLoc Exon Structure for
MPZ
ECgene alternative splicing isoforms for
MPZ

Expression for MPZ Gene

mRNA expression in normal human tissues for MPZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPZ Gene

This gene is overexpressed in Nerve - Tibial (x45.9).

Protein differential expression in normal tissues from HIPED for MPZ Gene

This gene is overexpressed in Spinal cord (65.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MPZ Gene



SOURCE GeneReport for Unigene cluster for MPZ Gene Hs.591486

mRNA Expression by UniProt/SwissProt for MPZ Gene

P25189-MYP0_HUMAN
Tissue specificity: Found only in peripheral nervous system Schwann cells.
genes like me logo Genes that share expression patterns with MPZ: view

Protein tissue co-expression partners for MPZ Gene

Primer Products

In Situ Assay Products

Orthologs for MPZ Gene

This gene was present in the common ancestor of chordates.

Orthologs for MPZ Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MPZ 35
  • 91.53 (n)
  • 93.22 (a)
MPZ 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPZ 35
  • 91.95 (n)
  • 95.76 (a)
MPZ 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mpz 35
  • 91.24 (n)
  • 93.64 (a)
Mpz 16
Mpz 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MPZ 35
  • 99.33 (n)
  • 99.6 (a)
MPZ 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpz 35
  • 90.82 (n)
  • 93.22 (a)
oppossum
(Monodelphis domestica)
Mammalia MPZ 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859605 35
  • 72.6 (n)
  • 72.88 (a)
MPZ 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpz 35
  • 68.7 (n)
  • 65.5 (a)
zebrafish
(Danio rerio)
Actinopterygii mpz 35
  • 56.07 (n)
  • 50.26 (a)
mpz 36
  • 48 (a)
OneToOne
Species with no ortholog for MPZ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MPZ Gene

ENSEMBL:
Gene Tree for MPZ (if available)
TreeFam:
Gene Tree for MPZ (if available)

Paralogs for MPZ Gene

Paralogs for MPZ Gene

(4) SIMAP similar genes for MPZ Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MPZ: view

Variants for MPZ Gene

Sequence variations from dbSNP and Humsavar for MPZ Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_004500 Charcot-Marie-Tooth disease 1B (CMT1B)
VAR_004501 Charcot-Marie-Tooth disease 1B (CMT1B)
VAR_004502 Charcot-Marie-Tooth disease 1B (CMT1B)
VAR_004503 Charcot-Marie-Tooth disease 1B (CMT1B)
VAR_004503 Charcot-Marie-Tooth disease 2I (CMT2I)

Structural Variations from Database of Genomic Variants (DGV) for MPZ Gene

Variant ID Type Subtype PubMed ID
nsv517826 CNV Gain 19592680

Variation tolerance for MPZ Gene

Residual Variation Intolerance Score: 39.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MPZ Gene

HapMap Linkage Disequilibrium report
MPZ
Human Gene Mutation Database (HGMD)
MPZ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPZ Gene

Disorders for MPZ Gene

MalaCards: The human disease database

(46) MalaCards diseases for MPZ Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 1b
  • charcot-marie-tooth disease
roussy-levy syndrome
  • charcot-marie-tooth disease
charcot-marie-tooth disease, type 2j
  • charcot-marie-tooth disease type 2j
charcot-marie-tooth disease, type 2i
  • charcot-marie-tooth disease type 2i
charcot-marie-tooth disease, dominant intermediate d
  • cmtdid
- elite association - COSMIC cancer census association via MalaCards
Search MPZ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYP0_HUMAN
  • Adie pupil (ADIEP) [MIM:103100]: A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J. {ECO:0000269 PubMed:16775239}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. {ECO:0000269 PubMed:10214757, ECO:0000269 PubMed:10545037, ECO:0000269 PubMed:10737979, ECO:0000269 PubMed:10965800, ECO:0000269 PubMed:11437164, ECO:0000269 PubMed:11438991, ECO:0000269 PubMed:11445635, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:12207932, ECO:0000269 PubMed:12221176, ECO:0000269 PubMed:12402337, ECO:0000269 PubMed:12497641, ECO:0000269 PubMed:12707985, ECO:0000269 PubMed:12845552, ECO:0000269 PubMed:14711881, ECO:0000269 PubMed:15036333, ECO:0000269 PubMed:16488608, ECO:0000269 PubMed:7504284, ECO:0000269 PubMed:7505151, ECO:0000269 PubMed:7527371, ECO:0000269 PubMed:7530774, ECO:0000269 PubMed:7550231, ECO:0000269 PubMed:7688964, ECO:0000269 PubMed:7693129, ECO:0000269 PubMed:7693130, ECO:0000269 PubMed:7694726, ECO:0000269 PubMed:8664899, ECO:0000269 PubMed:8797476, ECO:0000269 PubMed:8816708, ECO:0000269 PubMed:8835320, ECO:0000269 PubMed:8844219, ECO:0000269 PubMed:8990016, ECO:0000269 PubMed:9187667, ECO:0000269 PubMed:9217235, ECO:0000269 PubMed:9452091, ECO:0000269 PubMed:9452099, ECO:0000269 PubMed:9633821, ECO:0000269 Ref.40}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:14638973, ECO:0000269 PubMed:15241803, ECO:0000269 PubMed:9595994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil. {ECO:0000269 PubMed:10071056, ECO:0000269 PubMed:11080237, ECO:0000269 PubMed:15326256, ECO:0000269 PubMed:16775239}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269 PubMed:10406984}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269 PubMed:11438991, ECO:0000269 PubMed:11596785, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:12497641, ECO:0000269 PubMed:7506095, ECO:0000269 PubMed:8630052, ECO:0000269 PubMed:8816708, ECO:0000269 PubMed:9187667, ECO:0000269 PubMed:9222756, ECO:0000269 PubMed:9452055, ECO:0000269 PubMed:9452091, ECO:0000269 PubMed:9633821}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:15184631}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia. {ECO:0000269 PubMed:10553995}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MPZ

Genetic Association Database (GAD)
MPZ
Human Genome Epidemiology (HuGE) Navigator
MPZ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MPZ
genes like me logo Genes that share disorders with MPZ: view

No data available for Genatlas for MPZ Gene

Publications for MPZ Gene

  1. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. (PMID: 7693129) Hayasaka K. … Chance P.F. (Nat. Genet. 1993) 2 3 4 48 67
  2. Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero. (PMID: 19882637) Schneider-Gold C. … Gerding W.M. (Muscle Nerve 2010) 3 23
  3. Asymmetric phenotype associated with rare myelin protein zero mutation. (PMID: 20215982) Souayah N. … Tick Chong P.S. (J Clin Neuromuscul Dis 2010) 3 23
  4. Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. (PMID: 19293842) Mandich P. … Bellone E. (Eur. J. Hum. Genet. 2009) 3 23
  5. Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. (PMID: 19259128) Miltenberger-Miltenyi G. … Janecke A.R. (Eur. J. Hum. Genet. 2009) 3 23

Products for MPZ Gene

Sources for MPZ Gene

Back to Top

Content